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Spectrin-associated autosomal recessive cerebellar ataxia is a rare, genetic neurological disease, due to SPTBN2 mutations, characterized by global development delay in infancy, followed by childhood-onset gait ataxia with limb dysmetria and dysdiadochokinesia, mild to severe intellectual disability, development of cerebellar atrophy, and abnormal eye movements (including a convergent squint, hypometric saccades, jerky pursuit movements and incomplete range of movement).
Features include always present findings: Hypometric saccades, Motor delay, and Unsteady gait; and very common findings: Progressive cerebellar ataxia. 24 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Brain and nerves | 13 | Delayed speech and language development, Gait ataxia, Global developmental delay |
Eyes | 7 | Hypometric saccades, Nystagmus, Jerky ocular pursuit movements |
Muscles | 1 | Shrinkage of the cerebellum (cerebellar atrophy) |
SPTBN2 function has not been fully characterized.
Autosomal recessive spinocerebellar ataxia 14 is associated with mutations in the SPTBN2 gene on chromosome 11.
Genetic testing for SPTBN2 is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 3 always present features, 1 very common feature, 11 common features.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for autosomal recessive spinocerebellar ataxia 14.
3 publications have been identified in PubMed for autosomal recessive spinocerebellar ataxia 14. Research spans Review / Meta-Analysis (33%), Case Report / Case Series (33%), and Basic Science / Preclinical (33%).
Guo L (2025). [PMID: 40635703](https://pubmed.ncbi.nlm.nih.gov/40635703/). *Front Neurol*. [Case Report / Case Series]
Denha SA (2025). [PMID: 40484375](https://pubmed.ncbi.nlm.nih.gov/40484375/). *J Biol Chem*. [Basic Science / Preclinical]
Rudaks LI (2024). [PMID: 38760634](https://pubmed.ncbi.nlm.nih.gov/38760634/). *Cerebellum*. [Review / Meta-Analysis]
Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 5:37 PM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
AI-curated news mentioning autosomal recessive spinocerebellar ataxia 14
Updated Feb 12, 2026
A recent case report on familial SCA14 provides insights into the genetic underpinnings of this rare condition. The study reviews clinical features and genetic findings, contributing to the understanding of spinocerebellar ataxia type 14.